ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916001591
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251211
ClinVar RCV Id:
RCV000238588
RCV000807684
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Asp98Gly
CA10584909
NM_001195799.2:c.293A>G